title: Charcot-Marie-Tooth disease: a case presenting with hyperreflexia.
abstract: We report a 10-year-old girl with progressive weakness of lower extremities, feet deformity, and sensory impairment on both feet for 3 years. Absent ankle tendon reflex, exaggerated knee jerk and prolonged nerve conduction velocity were noted by physical and electrophysiological examination. Nerve and muscle biopsy showed demyelination and neurogenic changes respectively and supported the diagnosis of Charcot-Marie-Tooth disease, type I. The point that the diagnosis of Charcot-Marie-Tooth disease remains possible even in the absence of family history and the typical clinical picture is stressed. Complete electrophysiological study and tissue diagnosis are required for early diagnosis, early rehabilitation and reconstructive surgery.
authors.affiliation: Department of Pediatrics, College of Medicine, National Taiwan University, Taipei, R.O.C.
authors.forename: C C
authors.initials: CC
authors.lastname: Shieh
authors.forename: P J
authors.initials: PJ
authors.lastname: Wang
authors.forename: H J
authors.initials: HJ
authors.lastname: Lin
authors.forename: M Y
authors.initials: MY
authors.lastname: Lin
authors.forename: H C
authors.initials: HC
authors.lastname: Hsieh
authors.forename: Y Z
authors.initials: YZ
authors.lastname: Shen
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000503:physiopathology*; D002648:Child; D005260:Female; D006801:Humans; D009431:Neural Conduction; D012026:Reflex, Stretch